Did you know that genetic conditions are estimated to affect 5 to 10% of the general population? Unfortunately, even as genetic medical care has become increasingly affordable and accessible, most patients, primary care physicians, and specialists are unaware of the red flags that signal it’s time to seek genetic testing and support.

As a diagnostic genetics practice for adults, SequenceMD provides care for patients with rare conditions and unique medical needs, including undiagnosed conditions and unresolved symptoms. Many of the people we see have had similar histories in the medical system. Knowing these shared experiences and red flags can help you determine whether it’s time for you to see a medical geneticist.

Red Flags for Genetic Disorders

1. You’ve had tons of appointments and tests with no satisfactory diagnosis.

Many patients see a medical geneticist after months or years of searching for the right diagnosis. These patients have seen multiple specialists and had exhaustive workups, with numerous tests and blood draws. Still, some symptoms have been overlooked or not received the attention they deserved. Some patients have no diagnosis, while others have one that feels wrong or incomplete. For these patients, genetic testing and evaluation could reveal a rare disease, or, at the very least, rule out a known genetic cause.

2. Your disease occurred (or progressed) earlier than is usual.

Diseases or disorders that occur or progress at an earlier age than expected may be tied to your genetics. For example, Parkinson’s disease is most common in men over the age of 60. If a patient has an earlier onset, there is a higher chance of a genetic cause.

3. You don’t have the standard risk factors associated with your diagnosis.

In addition to age, most diseases have risk factors that can include things like diet, exercise, stress, drug and alcohol use, and exposure to certain environmental conditions. If you’ve been diagnosed with a disease but lack the common risk factors, something else may be at play. It’s possible your disease has a genetic cause or that your current diagnosis is wrong or incomplete. Either way, it’s worth investigating.

4. You have the same medical issue happening in multiple locations.

Many diseases (cancer for example) are more likely to occur in one location than two. If multiple organs or areas of your body are impacted, this may suggest a genetic cause. In medical terms, the condition may be bilateral (occurring in both of a pair of organs such as eyes, breasts, lungs, etc.) or multifocal (arising in multiple places / with multiple focuses). For example, if a patient has bilateral tumors in both eyes, a genetic cause is more probable than in the case of someone with a tumor in one eye.

5. You’ve been diagnosed with two unrelated primary diseases.

A primary disease arises spontaneously, meaning that it is in no way associated with or caused by any previous disease, injury, or event. If you are impacted by two unrelated primary diseases, a genetic factor could be an explanation. A medical geneticist may be able to trace your diseases to a single cause, giving you a unified diagnosis that can lead to improved medical care.

6. Standard therapies haven’t been successful for you.

If your symptoms are unexpectedly continuing or worsening after standard treatment—or you’ve developed new symptoms, your diagnosis may be incomplete or incorrect. Again, genetic testing and evaluation could identify an untreated underlying issue.

7. You have family members with a known or suspected genetic disorder.

If you have relatives who have been diagnosed with a genetic disease or suspect a particular issue runs in your family, you may want to consider genetic testing even if you don’t have obvious symptoms. Testing and evaluation could reveal an undiagnosed condition as well as inform future decisions and behaviors, such as avoiding stressors, improving health monitoring and management, and deciding to grow your family.

8. You’ve experienced two or more pregnancy losses for unknown reasons.

Miscarriages, particularly in the first trimester, are not uncommon. However, numerous unexpected miscarriages may point to a genetic modification, especially in combination with other genetic red flags.

9. You have been diagnosed with an intellectual or developmental disability.

Intellectual or developmental disabilities may be related to a genetic disorder. Even if you previously received care for your disability, you may have an untreated underlying disorder that predisposes you to other problems and could explain any current issues you’re experiencing. Getting genetic testing and evaluation could help you get the ongoing specialized care you deserve.

10. You were born with a malformation.

Minor malformations are relatively common in babies and include physical alterations that have no substantial medical or cosmetic consequences. A major malformation (also called a birth defect) is one that does have medical or cosmetic consequences. Examples include a heart defect, an underdeveloped or absent organ, or a cleft lip, to name a few. If someone was born with a major malformation or multiple minor ones, this may indicate a genetic disorder that could lead to (or have already caused) other complications.

The Benefits of a Genetic Diagnosis

If you have multiple red flags for a genetic disorder, seeing a medical geneticist could lead to a diagnosis that helps you know what to expect for your future and better manage your health and life. A genetic diagnosis can empower you to adjust behaviors to improve symptoms, make informed family planning decisions, or prepare for disease progression through actions like learning Braille or acquiring adaptive equipment. You’ll also be able to find support and advocacy resources by connecting with a community of people who share your condition.

Some genetic diseases are treatable, and because genetics is a rapidly changing field, many treatments and drugs are in development. Even if a genetic disease is not currently treatable, a diagnosis will enable care providers to proactively monitor or plan for complications and progression, ultimately improving your quality of life and lifespan. You may also have the chance to participate in clinical trials or research that could not only help you but many others long into the future.

Let Us Join You on Your Diagnostic Journey

At SequenceMD, we provide each patient with personalized, precision care. Before your first appointment, we closely review your diagnostic and medical histories so we have a thorough understanding of what you have experienced prior to your visit. On the day of your appointment, you’ll meet with one of our doctors for an evaluation of your past and current medical history. If you choose to move forward with genetic testing, a sample will be collected (not blood, so no fasting necessary), followed by in-depth genetic counseling. If a genetic diagnosis is reached based on testing, we’ll develop an individualized care plan for management or treatment, partnering with each patient for decision-making on what happens next. Finding answers and improving outcomes is at the heart of everything we do.

To learn more or connect with our team, submit a request online or get in touch at info@sequencemd.com or 303-832-7109 today.


Download the Genetic Testing Red Flags Checklist

Use this helpful checklist that outlines concerns and considerations for genetic testing. Once you download and complete the interactive form, share it with your primary care physician and healthcare specialists to begin a discussion about adult genetic testing.